CASE REPORT
Intrafamilial Diversity of Clinical Severity in Dominant Dystrophic Epidermolysis Bullosa: Case Series of Three Generations
Inne Arline Diana, Srie Prihianti Gondokaryono, Reiva Farah Dwiyana, July Iriani Rahardja, Yuri Yogya, Hendra Gunawan*
Article Information
Identifiers and Pagination:
Year: 2019Volume: 13
First Page: 3
Last Page: 7
Publisher ID: TODJ-13-3
DOI: 10.2174/1874372201913010003
Article History:
Received Date: 7/11/2018Revision Received Date: 01/01/2019
Acceptance Date: 14/01/2019
Electronic publication date: 28/02/2019
Collection year: 2019
open-access license: This is an open access article distributed under the terms of the Creative Commons Attribution 4.0 International Public License (CC-BY 4.0), a copy of which is available at: https://creativecommons.org/licenses/by/4.0/legalcode. This license permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Abstract
Background:
Epidermolysis bullosa, a group of inheritable blistering diseases with considerable clinical and genetic diversity, is divided into distinct subtypes depending on the level of tissue separation in the dermal–epidermal basement membrane zone. The dystrophic form of epidermolysis bullosa (DEB) is characterized by tense blisters and erosions which heals with extensive scarring. The fact that DEB can be inherited in either autosomal dominant (DDEB) or autosomal recessive (RDEB) pattern adds to its clinical diversity. The cause of marked clinical diversity in mild to severe DDEB is still unidentified.
Main Observation:
We report an intrafamilial diversity of clinical severity in dominant dystrophic epidermolysis bullosa (DDEB) cases within three generations.
Conclusion:
We emphasize the variety of clinical severity in DDEB cases within three generations which might be caused by unknown gene modifiers and environmental factors.
